ClinVar Miner

List of variants reported as likely benign for Ehlers-Danlos syndrome, spondylocheirodysplastic type by Invitae

Included ClinVar conditions (1):
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Total variants: 15
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HGVS dbSNP
NM_001128225.3(SLC39A13):c.1038G>A (p.Pro346=) rs772924353
NM_001128225.3(SLC39A13):c.105G>A (p.Pro35=) rs1398817706
NM_001128225.3(SLC39A13):c.348A>G (p.Gly116=) rs202080209
NM_001128225.3(SLC39A13):c.398C>T (p.Thr133Met) rs140574574
NM_001128225.3(SLC39A13):c.406G>A (p.Ala136Thr) rs141246142
NM_001128225.3(SLC39A13):c.439C>G (p.Gln147Glu) rs148291843
NM_001128225.3(SLC39A13):c.492G>T (p.Ala164=) rs149634596
NM_001128225.3(SLC39A13):c.539C>G (p.Ala180Gly) rs147227015
NM_001128225.3(SLC39A13):c.615C>G (p.Pro205=) rs147495812
NM_001128225.3(SLC39A13):c.627C>T (p.Ala209=) rs768982611
NM_001128225.3(SLC39A13):c.646-7T>C rs140597965
NM_001128225.3(SLC39A13):c.651C>T (p.Ser217=) rs752707598
NM_001128225.3(SLC39A13):c.696C>T (p.His232=) rs371961000
NM_001128225.3(SLC39A13):c.78C>A (p.Leu26=) rs140844921
NM_001128225.3(SLC39A13):c.795C>T (p.Asp265=) rs762829962

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